Arama Sonuçları - Bleyl, Steven B.

Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy Yazar: Purnell, Shawn M., Bleyl, Steven B., Bonkowsky, Joshua L.

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Detection of Isoform-Specific FGF Receptors by Whole Mount in Situ Hybridization in Early Chick Embryos Yazar: Nishita, Junko, Ohta, Sho, Bleyl, Steven B., Schoenwolf, Gary C.

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Identification of differentially expressed genes in early inner ear development Yazar: Paxton, Christian N., Bleyl, Steven B., Chapman, Susan C., Schoenwolf, Gary C.

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Non-synonymous variants in Pre B-cell leukemia homeobox (PBX) genes are associated with congenital heart defects Yazar: Arrington, Cammon B., Dowse, Benjamin R., Bleyl, Steven B., Bowles, Neil E.

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Mandibulofacial Dysostosis in a Patient with a de novo 2;17 Translocation that Disrupts the HOXD Gene Cluster Yazar: Stevenson, David A., Bleyl, Steven B., Maxwell, Teresa, Brothman, Arthur R., South, Sarah T.

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Redundant and dosage sensitive requirements for Fgf3 and Fgf10 in cardiovascular development Yazar: Urness, Lisa D., Bleyl, Steven B., Wright, Tracy J., Moon, Anne M., Mansour, Suzanne L.

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Clinicopathologic Comparison of Familial Versus Sporadic Atypical Teratoid/Rhabdoid Tumors (AT/RT) of the Central Nervous System Yazar: Bruggers, Carol S., Bleyl, Steven B., Pysher, Theodore, Barnette, Philip, Afify, Zeinab, Walker, Marion, Biegel, Jaclyn A.

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Use of ECMO and Mortality in Pediatric Cardiac Surgery Patients with Genetic Conditions: A Multicenter Analysis Yazar: Furlong-Dillard, Jamie M., Amula, Venugopal, Bailly, David K., Bleyl, Steven B., Wilkes, Jacob, Bratton, Susan L.

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DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy Yazar: Van Dorn, Charlotte S., Puchalski, Michael D., Weng, Hsin-Yi, Bleyl, Steven B., Butterfield, Russell J., Williams, Richard V.

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Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines Yazar: Khalifa, Aly, Mason, Clinton C, Garvin, Jennifer Hornung, Williams, Marc S, Del Fiol, Guilherme, Jackson, Brian R, Bleyl, Steven B, Alterovitz, Gil, Huff, Stanley M

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Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach Yazar: Hinton, Robert B., McBride, Kim L., Bleyl, Steven B., Bowles, Neil E., Border, William L., Garg, Vidu, Smolarek, Teresa A., Lalani, Seema R., Ware, Stephanie M.

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Exome Analysis of a Family with Pleiotropic Congenital Heart Disease Yazar: Arrington, Cammon B., Bleyl, Steven B., Matsunami, Norisada, Bonnell, Gabriel D., Otterud, Brith E.M., Nielsen, Douglas C., Stevens, Jeffrey, Levy, Shawn, Leppert, Mark F., Bowles, Neil E.

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Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) Yazar: Nash, Dustin, Arrington, Cammon B., Kennedy, Brett J., Yandell, Mark, Wu, Wilfred, Zhang, Wenying, Ware, Stephanie, Jorde, Lynn B., Gruber, Peter J., Yost, H. Joseph, Bowles, Neil E., Bleyl, Steven B.

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Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development Yazar: Bhoj, Elizabeth J, Ramos, Purita, Baker, Linda A, Cost, Nicholas, Nordenskjöld, Agneta, Elder, Frederick F, Bleyl, Steven B, Bowles, Neil E, Arrington, Cammon B, Delhomme, Brigitte, Vanhoutteghem, Amandine, Djian, Philippe, Zinn, Andrew R

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Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development Yazar: Bhoj, Elizabeth J, Ramos, Purita, Baker, Linda A, Garg, Vidu, Cost, Nicholas, Nordenskjöld, Agneta, Elder, Frederick F, Bleyl, Steven B, Bowles, Neil E, Arrington, Cammon B, Delhomme, Brigitte, Vanhoutteghem, Amandine, Djian, Philippe, Zinn, Andrew R

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Cardiac malformations in Pdgfrα mutant embryos are associated with increased expression of WT1 and Nkx2.5 in the second heart field Yazar: Bax, Noortje A.M., Bleyl, Steven B., Gallini, Radiosa, Wisse, Lambertus J., Hunter, Jennifer, van Oorschot, Angelique A.M., Mahtab, Edris A.F., Lie-Venema, Heleen, Goumans, Marie-Jose, Betsholtz, Christer, Gittenberger-de Groot, Adriana C.

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Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing Yazar: Segal, Michael M., Rahm, Alanna K., Hulse, Nathan C., Wood, Grant, Williams, Janet L., Feldman, Lynn, Moore, Gregory J., Gehrum, David, Yefko, Michelle, Mayernick, Steven, Gildersleeve, Roger, Sunderland, Margie C., Bleyl, Steven B., Haug, Peter, Williams, Marc S.

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Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms Yazar: Bleyl, Steven B., Saijoh, Yukio, Bax, Noortje A.M., Gittenberger-de Groot, Adriana C., Wisse, Lambertus J., Chapman, Susan C., Hunter, Jennifer, Shiratori, Hidetaka, Hamada, Hiroshi, Yamada, Shigehito, Shiota, Kohei, Klewer, Scott E., Leppert, Mark F., Schoenwolf, Gary C.

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Exome Analysis of a Family with Wolff–Parkinson–White Syndrome Identifies a Novel Disease Locus Yazar: Bowles, Neil E., Jou, Chuanchau J., Arrington, Cammon B., Kennedy, Brett J., Earl, Aubree, Matsunami, Norisada, Meyers, Lindsay L., Etheridge, Susan P., Saarel, Elizabeth V., Bleyl, Steven B., Yost, H. Joseph, Yandell, Mark, Leppert, Mark F., Tristani-Firouzi, Martin, Gruber, Peter J.

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A Family-Based Paradigm to Identify Candidate Chromosomal Regions for Isolated Congenital Diaphragmatic Hernia Yazar: Arrington, Cammon B., Bleyl, Steven B., Matsunami, Nori, Bowles, Neil E., Leppert, Tami I., Demarest, Bradley L., Osborne, Karen, Yoder, Bradley A., Byrne, Janice L., Schiffman, Joshua D., Null, Donald M., DiGeronimo, Robert, Rollins, Michael, Faix, Roger, Comstock, Jessica, Camp, Nicola J., Leppert, Mark F., Yost, H. Joseph, Brunelli, Luca

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